Rezultati pretrage - Schuler, Elisabeth
- Prikaz rezultata 1 – 3 od 3
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1
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy od Butler, Kameryn M, Moody, Olivia A, Schuler, Elisabeth, Coryell, Jason, Alexander, John J, Jenkins, Andrew, Escayg, Andrew
Izdano 2018Tekst -
2
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy od XiangWei, Wenshu, Kannan, Varun, Xu, Yuchen, Kosobucki, Gabrielle J, Schulien, Anthony J, Kusumoto, Hirofumi, Moufawad El Achkar, Christelle, Bhattacharya, Subhrajit, Lesca, Gaetan, Nguyen, Sylvie, Helbig, Katherine L, Cuisset, Jean-Marie, Fenger, Christina Dühring, Marjanovic, Dragan, Schuler, Elisabeth, Wu, Ye, Bao, Xinhua, Zhang, Yuehua, Dirkx, Nina, Schoonjans, An-Sofie, Syrbe, Steffen, Myers, Scott J, Poduri, Annapurna, Aizenman, Elias, Traynelis, Stephen F, Lemke, Johannes R, Yuan, Hongjie, Jiang, Yuwu
Izdano 2019Tekst -
3
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics od Begemann, Anaïs, Sticht, Heinrich, Begtrup, Amber, Vitobello, Antonio, Faivre, Laurence, Banka, Siddharth, Alhaddad, Bader, Asadollahi, Reza, Becker, Jessica, Bierhals, Tatjana, Brown, Kathleen E., Bruel, Ange-Line, Brunet, Theresa, Carneiro, Maryline, Cremer, Kirsten, Day, Robert, Denommé-Pichon, Anne-Sophie, Dyment, Dave A., Engels, Hartmut, Fisher, Rachel, Goh, Elaine S., Hajianpour, M. J., Haertel, Lucia Ribeiro Machado, Hauer, Nadine, Hempel, Maja, Herget, Theresia, Johannsen, Jessika, Kraus, Cornelia, Le Guyader, Gwenaël, Lesca, Gaetan, Mau-Them, Frédéric Tran, McDermott, John Henry, McWalter, Kirsty, Meyer, Pierre, Õunap, Katrin, Popp, Bernt, Reimand, Tiia, Riedhammer, Korbinian M., Russo, Martina, Sadleir, Lynette G., Saenz, Margarita, Schiff, Manuel, Schuler, Elisabeth, Syrbe, Steffen, Van der Ven, Amelie Theresa, Verloes, Alain, Willems, Marjolaine, Zweier, Christiane, Steindl, Katharina, Zweier, Markus, Rauch, Anita
Izdano 2020Tekst